Department of Ophthalmology and Visual Sciences

Brian Besch, MDSeptember 20,2019

Telangiectasia Tales

CCBloody tears OU

HPI• 33 y/o M presents with ~1 month of episodic

unprovoked bleeding OU. No known trauma. Associated with occasional tearing, conjunctival injection/irritation OU.

• Taking Vigamox, tobramycin, and fluorometholone (FML) gtts from outside provider for suspected conjunctivitis

Patient Presentation

History (Hx)Past Ocular Hx: none

Past Medical Hx: • seizure disorder• anemia• arthritis• depression/anxiety

Fam Hx:• glaucoma

Social Hx: non-contributory

Meds• Vigamox, tobramycin, FML

gtts• Levetiracetam• Hydroxyzine • Cyclobenzaprine• KCl• B12

Allergies: no knownROS: negative

OD OS

BCVA 20/30-2 (Surface irregularities) 20/25

Pupils Round, brisk No rAPD Round, brisk

IOP 9 mmHg 9 mmHg

EOM full full

CVF full full

External Exam

Anterior Segment ExamPLE or SLE OD OS

External/Lids Blepharitis Blepharitis

Conj/Sclera

Telangiectatic vessels on palpebral tarsal conjunctiva of upper and lower lid

Telangiectatic vessels on palpebral tarsal conjunctiva of upper and lower lid

Cornea Pannus superior limbus

Pannus superiorlimbus

Ant Chamber Deep & quiet Deep & quiet

Iris Flat Flat

Lens Clear Clear

Posterior Segment ExamFundus OD OS

Optic Nerve No edema, pallor No edema, pallor

Macula No hemorrhage, sub-retinal fluid, or edema

No hemorrhage, sub-retinal fluid, or edema

Vessels Normal caliber Normal caliber

Periphery No holes or tears 360 No holes or tears 360

• 33 y/o M with chronic blepharitis and a 1 month Hx of episodic, unprovoked haemolacria OU. Exam notable for tarsal conjunctival telangiectasias and superior corneal pannus

• On further questioning, anemia 2/2 GI bleed associated with a “bleeding disorder”

Assessment

• Lacrimal gland pathology• Malignancy, infection

• Conjunctiva pathology• Malignancy, Stevens Johnson Syndrome,

conjunctivitis, anticoagulation, trauma• Canaliculitis• Sinus pathology

• Retrograde tear flow in epistaxis• Factitious disorder• Hereditary hemorrhagic telangiectasia

Differential Diagnosis - Haemolacria

• Discontinue antibiotic gtts• Continue fluorometholone (FML) gtt 0.1%

qd for corneal pannus for 1 month• Start artificial tears (ATs) prn, lid hygiene

for chronic blepharitis• Avoid eye rubbing, etc which could

provoke bleeding• Clinic follow up in 6 months

Plan

• Hereditary Hemorrhagic Telangiectasia (HHT)– (Osler-Weber-Rendu syndrome/disease)– Prevalence: ~1 per 10,000– Autosomal dominant inheritance– TGFβ signaling genes: endoglin, ACVRL1– Systemic arteriovenous malformations (AVMs)

• Absence of capillaries connecting arteries & veins• Tortuous, dilated, thin-walled vessels without vessel wall

contractile elements prone to bleeding from minimal trauma

Discussion

HHT Diagnosis

• Epistaxis most common by adolescence (80-90% by age 21)

• Other mucocutaneous telangiectasias present 5-10 years later

Clinical Manifestations

• Cerebral AVMs overwhelmingly congenital and remain unchanged

• Visceral AVMs may develop/progress slowly over time

Clinical Manifestations

• Conjunctival telangiectasias• Conjunctival involvement most common

– Palpebral > bulbar involvement– Haemolacria: disturbing to patients but clinically benign

• Prevalence ~39%• No correlation to presence of specific visceral findings

Ocular Manifestations

• Retinal and choroidal telangiectasias• Rare; ~1%; data limited• Case series of 8 family members showed 3 with chorioretinal

atrophy/telangiectasia

Ocular Manifestations

Retinal/Choroidal TelangiectasiasFluorescein /indocyanine green angiography may reveal tortuous, dilated vasculature

Case Reports

• Haemolacria may be a sign in the constellation of HHT findings

• Conjunctival telangiectasias most common ocular manifestation; chorioretinalinvolvement is rare or possibly under-recognized

• Conservative management is usually enough to stop bleeding from conjunctival telangiectatic vessels (in other organs surgical intervention or argon laser coagulation might be required)

Conclusions

• Special thanks to Dr. Asghari

Acknowledgement

1. Rinaldi M, Buscarini E, Danesino C, et al. Ocular manifestations in hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease): A case-series. Ophthalmic Genetics. 2011;32(1):12-17. doi:10.3109/13816810.2010.535891

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6. Kuchtey RW, Naratadam GT, Kuchtey J. Severe open angle glaucoma in hereditary hemorrhagic telangiectasia. Clinical Case Reports. 2015;3(9):725-727. doi:10.1002/ccr3.324

7. Davis DG, Smith JL. Retinal involvement in hereditary hemorrhagic telangiectasia. Arch Ophthalmol. 1971;85(5):618-621 passim. doi:10.1001/archopht.1971.00990050620018

8. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic telangiectasia: An overview of diagnosis, management, and pathogenesis. Genetics in Medicine. 2011;13(7):607-616. doi:10.1097/GIM.0b013e3182136d32

9. Kühnel T, Wirsching K, Wohlgemuth W, Chavan A, Evert K, Vielsmeier V. Hereditary Hemorrhagic Telangiectasia. Otolaryngologic Clinics of North America. 2018;51(1):237-254. doi:10.1016/j.otc.2017.09.017

10. https://eyewiki.aao.org/Bloody_tears

References